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■ Abbreviation / Long Form : FGD / Familial glucocorticoid deficiency

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Total Number of Papers: 74
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Abbreviation:   FGD  (>> Co-occurring Abbreviation)
Long Form:   Familial glucocorticoid deficiency
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 Long Form Variation
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No. Year Title Co-occurring Abbreviation
2019 Isolated glucocorticoid deficiency: Genetic causes and animal models. ---
2018 A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene. DSD, LCAH, PAI, StAR
2018 Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions. DCM, PCH2D, Sec
2018 Pathophysiology of melanocortin receptors and their accessory proteins. MCRs
2017 A Pilot Study Evaluating Therapeutic Response of Different Dosage of Oral Glucocorticoid in Two Children with Familial Glucocorticoid Deficiency Presenting with Diffuse Mucocutaneous Hyperpigmentation. ---
2017 Early diagnosis in familial glucocorticoid deficiency. ---
2017 MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction. NNT, PAI, SGPL1, StAR, TrxR2
2016 Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: A case report. ACTH
2016 NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects. NNT
10  2016 Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations. H-NNT, NNT
11  2015 A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD). NNT
12  2015 Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress. ACTH, NNT, ROS
13  2015 Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency. NNT
14  2015 NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency. gDNA, NNT
15  2015 Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children. ---
16  2014 IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients. ---
17  2014 Neonatal hyperpigmentation: diagnosis of familial glucocorticoid deficiency with a novel mutation in the melanocortin-2 receptor gene. ACTH
18  2014 Novel insight into etiology, diagnosis and management of primary adrenal insufficiency. PAI
19  2014 Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). TXNRD2
20  2013 A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency. ---
21  2013 ACTH resistance: genes and mechanisms. MCM4, NNT, StAR
22  2013 Familial glucocorticoid deficiency: a diagnostic challenge during acute illness. ACTH
23  2013 Familial glucocorticoid deficiency: New genes and mechanisms. MCM4, NNT, StAR
24  2012 A case report: Familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis. FSGS
25  2012 A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workup. ---
26  2012 An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W). MC1R
27  2012 Familial glucocorticoid deficiency presenting with generalized hyperpigmentation in adolescence. Report of three siblings. ACTH
28  2012 MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. MCM4
29  2012 Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair. NK
30  2011 A novel mutation in the MC2R gene causing familial glucocorticoid deficiency type 1. ---
31  2011 Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations. ---
32  2011 Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein. MC2R, STAR
33  2011 Short stature in a patient with familial glucocorticoid deficiency. ---
34  2010 Familial glucocorticoid deficiency type 2: a case report. ACTH
35  2010 Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency. AD, StAR
36  2010 Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2. MC2R
37  2010 Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. MC2R
38  2009 A corticotroph pituitary adenoma as the initial presentation of familial glucocorticoid deficiency. MC2R, MRI
39  2009 Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report. ---
40  2009 Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations. ---
41  2009 Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency. ---
42  2009 Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. ---
43  2009 The molecular basis of adrenocorticotrophin resistance syndrome. MC2R, MRAP
44  2008 A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency. ---
45  2008 A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population. ---
46  2008 Adrenocorticotropin resistance syndromes. GPCRs, MRAP, RAMPs, RTPs
47  2008 Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action. MC2R
48  2008 Heterogeneity in the molecular basis of ACTH resistance syndrome. ---
49  2008 The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface. MC2R
50  2007 Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein. ---
51  2007 Melanocortin 2 receptor is required for adrenal gland development, steroidogenesis, and neonatal gluconeogenesis. KO, MC2R
52  2007 Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes. SNPs
53  2007 [Familial glucocorticoid deficiency]. ---
54  2006 A possible role for melanocortin peptides in longitudinal growth. gamma2-MSH
55  2006 Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency. MC2R
56  2006 The genetics of ACTH resistance syndromes. ---
57  2006 Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation. ---
58  2005 Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. ---
59  2005 Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency. ---
60  2004 A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review. ---
61  2003 Familial glucocorticoid deficiency type 2 in two neonates. ACTH
62  2002 Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. MCRs
63  2002 Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency. ---
64  2002 Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity. FGD2
65  2002 [Familial glucocorticoid deficiency due to the ACTH receptor gene mutations]. ---
66  2001 Syndrome of congenital adrenocortical unresponsiveness to ACTH. Report of six patients. ---
67  2000 Tall stature in familial glucocorticoid deficiency. ---
68  2000 The expression of the ACTH receptor. ACTH
69  2000 [ACTH resistance syndromes]. ---
70  1999 ACTH resistance syndromes. ---
71  1998 ACTH receptor mutation in a girl with familial glucocorticoid deficiency. ACTH
72  1998 [ACTH receptor, ACTH receptor anomaly, and familial glucocorticoid deficiency]. MC-2R
73  1997 Adrenocorticotropin receptor and adrenal disorders. ---
74  1994 Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency. ---